Canonical Allele Identifier: CA512491464
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1565292
ClinVar RCV Id: RCV002205241
dbSNP Id: rs2146382261
gnomAD v3: 21-44292308-C-G
gnomAD v4: 21-44292308-C-G
MyVariant Identifiers: chr21:g.45712191C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292308C>G , CM000683.2:g.44292308C>G GRCh38
NC_000021.8:g.45712191C>G , CM000683.1:g.45712191C>G GRCh37
NC_000021.7:g.44536619C>G NCBI36
NG_009556.1:g.11429C>G , LRG_18:g.11429C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1002C>G MANE Select ENSP00000291582.5:p.Thr334=
ENST00000291582.5:c.1002C>G ENSP00000291582.5:p.Thr334=
ENST00000337909.5:n.463C>G
ENST00000397994.8:n.463C>G
ENST00000527919.5:n.1732C>G
ENST00000530812.5:n.2749C>G
NM_000383.3:c.1002C>G NP_000374.1:p.Thr334=
XM_011529551.1:c.999C>G XP_011527853.1:p.Thr333=
NM_000383.4:c.1002C>G MANE Select NP_000374.1:p.Thr334=
Search 100 bp 5'
Search 100 bp 3'